Naslov
Alpha-neurominidase deficiency syndrome

Autori
Sepčić, Juraj ; Milohanović, Severin ; Marković, Dubravko ; Rizzuto Nicolo

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Abstracts. Third European Meeting of Neuropathology. Clinical Neuropathology Vol 7(4) / Schlote W, Vogel F.S. - München : Deisenhofen, 1988

Skup
Third European Meeting of Neuropathology

Mjesto i datum
Verona, Italija, 27.09.1988. - 29.09.1988

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Alpha-neurominidase; deficiency syndrome

Sažetak
Clinical and biologic characteristics of a rare congenital lysosomal disease - sialidosis, caused by the enzyme alpha-neuraminidase deficiency, important in glycolipid and glycoprotein catabolism, have been reported. Two young female patients, nieces, with cherry-red spot changes on the retina, progressive myoclonic epilepsy and preserved intelligence where found in the autochthonous family from Istria, Croatia. One of them was born in consanguineous marriage. This patient developed hearing handicap, enlarged liver and cystic changes on the right femur epiphysis. Pathohistologic treatment of the skin, conjunctiva, rectal mucous membrane, liver, muscles, and peripheral nerve proved the existence of thesaurismosis. Complete alpha-(2-6) neuraminidase deficiency with fetuin as a substrate was found in the skin fibroblast culture in both patients. The activity of other lysosomal enzymes and beta-galactosidase was in the range of normal values. Increased sialyl-oligosaccharide secretion was proved in both female patients and their seven relatives, using a method of thin film chromatography of urine. Less quantities of sialyl-oligosaccharide were found in the urine of her female relative who developed nephropathy with terminal renal insufficiency, bath without neurologic disorders. Brother and sister of this female patient expired from the identical disease. Typical phenomenom of cherry-red spot – myoclonus syndrome (sialidosis Type I) in one female patient, presence of the disease variation in the other one, and the possible nephrosialidosis in three patients from the same family suggested that alpha-neuraminidase deficiency could be expressed by various clinical entities.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA